2013
Small-Fiber Neuropathy Nav1.8 Mutation Shifts Activation to Hyperpolarized Potentials and Increases Excitability of Dorsal Root Ganglion Neurons
Huang J, Yang Y, Zhao P, Gerrits MM, Hoeijmakers JG, Bekelaar K, Merkies IS, Faber CG, Dib-Hajj SD, Waxman SG. Small-Fiber Neuropathy Nav1.8 Mutation Shifts Activation to Hyperpolarized Potentials and Increases Excitability of Dorsal Root Ganglion Neurons. Journal Of Neuroscience 2013, 33: 14087-14097. PMID: 23986244, PMCID: PMC6618513, DOI: 10.1523/jneurosci.2710-13.2013.Peer-Reviewed Original ResearchMeSH KeywordsAction PotentialsAmino Acid SequenceAnimalsCells, CulturedGanglia, SpinalHumansIon Channel GatingMaleMembrane PotentialsMiceMice, TransgenicMiddle AgedMolecular Sequence DataMutation, MissenseNAV1.8 Voltage-Gated Sodium ChannelNeuronsPeripheral Nervous System DiseasesRatsRats, Sprague-DawleyConceptsDorsal root ganglion neuronsSmall DRG neuronsDRG neuronsGanglion neuronsAction potentialsIdiopathic small fiber neuropathySmall-diameter DRG neuronsWhole-cell voltage-clamp recordingsSmall-caliber nerve fibersVoltage-gated sodium channel Nav1.7Peripheral sensory neuronsCurrent-clamp studiesLimited treatment optionsSmall fiber neuropathySodium channel Nav1.8Voltage-clamp recordingsSodium channel Nav1.7Autonomic dysfunctionIncreases excitabilityTreatment optionsUnknown etiologyFunctional variantsNerve fibersSensory neuronsRamp depolarization
2012
Nav1.7-related small fiber neuropathy
Han C, Hoeijmakers JG, Ahn H, Zhao P, Shah P, Lauria G, Gerrits MM, te Morsche R, Dib-Hajj SD, Drenth JP, Faber CG, Merkies IS, Waxman SG. Nav1.7-related small fiber neuropathy. Neurology 2012, 78: 1635-1643. PMID: 22539570, DOI: 10.1212/wnl.0b013e3182574f12.Peer-Reviewed Original ResearchConceptsSmall fiber neuropathyDorsal root gangliaDRG neuronsIdiopathic small fiber neuropathySmall-diameter peripheral axonsDRG neuron hyperexcitabilityIdentifiable underlying causeNerve conduction studiesQuantitative sensory testingSympathetic ganglion neuronsSFN symptomsNeuron hyperexcitabilityConduction studiesGanglion neuronsRoot gangliaSkin biopsiesDifferential diagnosisPeripheral axonsSensory testingVoltage-clamp analysisApparent causePatientsNoninactivating componentUnderlying causeSuprathreshold stimuli